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Life-Saving Gene Therapy for Fatal Skin Disease

Junctional epidermolysis bullosa (JEB) is a rare genetic disease which predisposes skin to erosion, extreme blistering, and injuries likened to those of burn victims. The often-lethal condition causes mutations in genes encoding for laminin-322, a protein essential for attaching the epidermis to deeper skin layers. However, advancements in stem cell and gene therapy have uncovered an innovative and thus far effective treatment.

In June 2015, the Children’s Hospital of Ruhr-University in Germany admitted a seven-year-old boy with JEB in a septic state after contracting infection. This was due to losing the protection that skin normally provides from bacteria and other pathogens. During hospitalization, he lost epidermal tissue on 60% of his body and was on the verge of death.

Desperate for a solution, doctors reached out to physician Michele de Luca and his team to attempt experimental gene therapy on the patient. While the technique had never been tested on such a large area of damaged tissue, if successful, it would reverse the symptoms entirely.

Source: University of Colorado/AutoCWW2

Epidermal stem cells, responsible for skin regeneration and repair, were taken from unaffected tissue and cultured in vitro. They were infected with a retrovirus containing functional copies of LAMB3, a gene commonly mutated in JEB. The cells were then grown into sheets of healthy skin and surgically grafted onto the patient’s chest, back, arms, and legs.

A month later, researchers found that 80% of the boy’s epidermal tissue had been restored by the skin grafts. The new skin also healed normally and didn’t form blisters after being put under mechanical stress. Two years after the life-saving procedure, the patient is leading a relatively normal life.

The story offers an optimistic outlook on future treatment options for children diagnosed with JEB. Dr. De Luca believes “that the regenerated epidermis will last for a very long time, probably forever.”

Scientists are currently looking into a treatment plan that involves collecting epidermal stem cells of patients upon diagnosis. The end goal is a stem cell “bank” that can preemptively defend against the development of severe skin lesions. With this approach, life-threatening situations due to JEB could be avoided completely.